Targeted gene under study:

SNX14 (OMIM * 616105, # 616354; ORPHA: 397709)


SNX14-related autosomal recessive spinocerebellar ataxia is a neurodevelopmental disorder characterized by severely delayed neurodevelopment with poor or absent speech, wide-based or absent gait, coarse facies, and progressive cerebellar atrophy. Here, we collect data for a genotype-phenotype correlation study, especially regarding the spectrum of movement disorders.

Coordinating clinicians

Hormos Dafsari –


Department of Pediatrics, University Hospital Cologne, Cologne, Germany.

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: Yes